Active — Not RecruitingNot Applicable

Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study

France100 participantsStarted 2019-09-16

Plain-language summary

The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD. To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria. The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.

Who can participate

Age range

18 Years – 75 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria * Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63 * Age 18-75 years * Symptomatic limb weakness * Patient able to walk alone or with a walking aid. * Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles * Patient affiliated to the social security system * Patient giving written consent after written and oral information. * If taking over the counter supplements willing to remain consistent with supplement regimen throughout the course of the study Exclusion Criteria * Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator) * Orthopedic conditions that preclude safe testing of muscle function * Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists * Use of an experimental drug in an FSHD clinical trial within the past 30 days * Pregnancy. * Contraindication for muscle MRI * Any major comorbidity

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Validate FSHD-COM in French as COA

Timeframe: at baseline, 12, 18 and 24 months

Validate optimized Timed Up and Go Test (optimized TUG) as COA

Timeframe: at baseline, 12, 18 and 24 months

Trial details

NCT IDNCT04038138

SponsorCentre Hospitalier Universitaire de Nice

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2025-09-03

View on ClinicalTrials.gov More Muscular Dystrophy trials